Gene/Proteome Database (LMPD)

LMPD ID
LMP001084
Gene ID
3290
Species
Homo sapiens (Human)
Gene Name
hydroxysteroid (11-beta) dehydrogenase 1
Gene Symbol
HSD11B1
Synonyms
11-DH; 11-beta-HSD1; CORTRD2; HDL; HSD11; HSD11B; HSD11L; SDR26C1
Alternate Names
corticosteroid 11-beta-dehydrogenase isozyme 1; short chain dehydrogenase/reductase family 26C, member 1
Chromosome
1
Map Location
1q32-q41
EC Number
1.1.1.146
Summary
The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
Orthologs
View orthologs and multiple alignments for HSD11B1

Proteins

corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID NP_861420
Protein GI 32455239
UniProt ID P28845
mRNA ID NM_181755
Length 292
RefSeq Status REVIEWED
MAFMKKYLLPILGLFMAYYYYSANEEFRPEMLQGKKVIVTGASKGIGREMAYHLAKMGAHVVVTARSKETLQKVVSHCLELGAASAHYIAGTMEDMTFAEQFVAQAGKLMGGLDMLILNHITNTSLNLFHDDIHHVRKSMEVNFLSYVVLTVAALPMLKQSNGSIVVVSSLAGKVAYPMVAAYSASKFALDGFFSSIRKEYSVSRVNVSITLCVLGLIDTETAMKAVSGIVHMQAAPKEECALEIIKGGALRQEEVYYDSSLWTTLLIRNPCRKILEFLYSTSYNMDRFINK
corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID NP_001193670
Protein GI 332078483
UniProt ID P28845
mRNA ID NM_001206741
Length 292
RefSeq Status REVIEWED
Protein sequence is identical to GI:32455239 (mRNA isoform)
corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID NP_005516
Protein GI 5031765
UniProt ID P28845
mRNA ID NM_005525
Length 292
RefSeq Status REVIEWED
Protein sequence is identical to GI:32455239 (mRNA isoform)

Gene Information

Entrez Gene ID
3290
Gene Name
hydroxysteroid (11-beta) dehydrogenase 1
Gene Symbol
HSD11B1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0070524 IEA:UniProtKB-EC F 11-beta-hydroxysteroid dehydrogenase (NADP+) activity
GO:0003845 TAS:Reactome F 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0006704 TAS:Reactome P glucocorticoid biosynthetic process
GO:0030324 IEA:Ensembl P lung development
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:Reactome P steroid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa05204 Chemical carcinogenesis
hsa00140 Steroid hormone biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR020904 Short-chain dehydrogenase/reductase, conserved site

UniProt Annotations

Entry Information

Gene Name
hydroxysteroid (11-beta) dehydrogenase 1
Protein Entry
DHI1_HUMAN
UniProt ID
P28845
Species
Human

Comments

Comment Type Description
Catalytic Activity An 11-beta-hydroxysteroid + NADP(+) = an 11- oxosteroid + NADPH. {ECO
Disease Cortisone reductase deficiency (CRD) [MIM
Function Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7- ketocholesterol to 7-beta-hydroxycholesterol (By similarity).
Ptm Glycosylated. {ECO
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular Location Endoplasmic reticulum membrane ; Single-pass type II membrane protein .
Subunit Homodimer. {ECO
Tissue Specificity Widely expressed. Highest expression in liver.

Identical and Related Proteins

Unique RefSeq proteins for LMP001084 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
32455239 RefSeq NP_861420 292 corticosteroid 11-beta-dehydrogenase isozyme 1

Identical Sequences to LMP001084 proteins

Reference Database Accession Length Protein Name
GI:32455239 GenBank AFO15778.1 292 Sequence 27 from patent US 8211998
GI:32455239 GenBank AGM58110.1 292 Sequence 2 from patent US 8420365
GI:32455239 GenBank AHE01237.1 292 Sequence 56153 from patent US 8586006
GI:32455239 GenBank AHE01238.1 292 Sequence 56154 from patent US 8586006
GI:32455239 GenBank AHW56509.1 292 hydroxysteroid 11-beta dehydrogenase 1 isoform A, partial [Homo sapiens]
GI:32455239 GenBank AIC54580.1 292 HSD11B1, partial [synthetic construct]

Related Sequences to LMP001084 proteins

Reference Database Accession Length Protein Name
GI:32455239 GenBank JAA06326.1 292 hydroxysteroid (11-beta) dehydrogenase 1 [Pan troglodytes]
GI:32455239 GenBank JAA20586.1 292 hydroxysteroid (11-beta) dehydrogenase 1 [Pan troglodytes]
GI:32455239 RefSeq XP_514165.2 292 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 1 [Pan troglodytes]
GI:32455239 RefSeq XP_003831257.1 292 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 1 [Pan paniscus]
GI:32455239 RefSeq XP_004028376.1 292 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 1 isoform 2 [Gorilla gorilla gorilla]
GI:32455239 RefSeq XP_004028377.1 292 PREDICTED: corticosteroid 11-beta-dehydrogenase isozyme 1 isoform 3 [Gorilla gorilla gorilla]